{"_id":"chr14:g.94844837A>G","_version":2,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"A","annotype":"CodingTranscript","bstatistic":840,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.024,"quies":0.496,"reprpc":0.016,"reprpcwk":0.26,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.063,"txflnk":0.0,"txwk":0.118,"znfrpts":0.0},"chrom":14,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.03,"dna":{"helt":0.44,"mgw":0.44,"prot":1.51,"roll":2.46},"encode":{"exp":5.33,"h3k27ac":2.68,"h3k4me1":1.0,"h3k4me3":1.36,"nucleo":0.5},"exon":"7/7","fitcons":0.527649,"gc":0.48,"gene":{"ccds_id":"CCDS9925.1","cds":{"cdna_pos":1779,"cds_pos":1206,"rel_cdna_pos":0.5,"rel_cds_pos":0.96},"feature_id":"ENST00000448921","gene_id":"ENSG00000197249","genename":"SERPINA1","prot":{"domain":"ndomain","protpos":402,"rel_prot_pos":0.96}},"gerp":{"n":4.37,"s":-4.42},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":51,"min_dist_tss":4747,"mutindex":26,"naa":"N","oaa":"N","phast_cons":{"mammalian":0.0,"primate":0.001,"vertebrate":0.0},"phred":0.141,"phylop":{"mammalian":-0.454,"primate":-0.377,"vertebrate":-0.424},"pos":94844837,"rawscore":-0.578731,"ref":"A","segway":"L0","type":"SNV"},"chrom":"14","clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":586517,"alt":"G","chrom":"14","cytogenic":"14q32.13","gene":{"id":"5265","symbol":"SERPINA1"},"hg19":{"end":94844837,"start":94844837},"hg38":{"end":94378500,"start":94378500},"hgvs":{"coding":["LRG_575t1:c.1206T>C","NM_000295.5:c.1206T>C","NM_001002235.3:c.1206T>C","NM_001002236.3:c.1206T>C","NM_001127700.2:c.1206T>C","NM_001127701.2:c.1206T>C","NM_001127702.2:c.1206T>C","NM_001127703.2:c.1206T>C","NM_001127704.2:c.1206T>C","NM_001127705.2:c.1206T>C","NM_001127706.2:c.1206T>C","NM_001127707.2:c.1206T>C"],"genomic":["LRG_575:g.17193T>C","NC_000014.8:g.94844837A>G","NC_000014.9:g.94378500A>G","NG_008290.1:g.17193T>C"],"protein":["LRG_575p1:p.Asn402=","NP_000286.3:p.Asn402=","NP_001002235.1:p.Asn402=","NP_001002236.1:p.Asn402=","NP_001121172.1:p.Asn402=","NP_001121173.1:p.Asn402=","NP_001121174.1:p.Asn402=","NP_001121175.1:p.Asn402=","NP_001121176.1:p.Asn402=","NP_001121177.1:p.Asn402=","NP_001121178.1:p.Asn402=","NP_001121179.1:p.Asn402="]},"rcv":[{"accession":"RCV000731004","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2017-12-21","number_submitters":1,"origin":"germline","preferred_name":"NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)","review_status":"criteria provided, single submitter"},{"accession":"RCV001087977","clinical_significance":"Conflicting interpretations of pathogenicity","conditions":{"identifiers":{"medgen":"C0221757","mondo":"MONDO:0013282","omim":"613490","orphanet":"60"},"name":"Alpha-1-antitrypsin deficiency (A1ATD)","synonyms":["AAT deficiency","A1AT deficiency","Alpha1-Antitrypsin Deficiency"]},"last_evaluated":"2024-08-05","number_submitters":2,"origin":"germline","preferred_name":"NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)","review_status":"criteria provided, conflicting interpretations"},{"accession":"RCV002343598","clinical_significance":"Likely benign","conditions":{"identifiers":{"medgen":"C0950123","mesh":"D030342"},"name":"Inborn genetic diseases"},"last_evaluated":"2021-07-07","number_submitters":1,"origin":"germline","preferred_name":"NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)","review_status":"criteria provided, single submitter"}],"ref":"A","rsid":"rs766128806","type":"single nucleotide variant","variant_id":595455},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"A","freq":{"alspac":1.0,"dbgap_popfreq":1.0,"exac":1.0,"gnomad":1.0,"gnomad_exomes":1.0,"topmed":1.0,"twinsuk":1.0}},{"allele":"G","freq":{"alspac":0.0,"dbgap_popfreq":0.0,"exac":0.0,"gnomad":0.0,"gnomad_exomes":0.0,"topmed":0.0,"twinsuk":0.0}}],"alt":"G","chrom":"14","dbsnp_build":156,"gene":{"geneid":5265,"is_pseudo":false,"name":"serpin family A member 1","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1250,"seq_id":"NM_000295.5"},"hgvs":"NM_000295.5:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_000286.3"}}},"protein_product":{"refseq":"NP_000286.3"},"refseq":"NM_000295.5","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1386,"seq_id":"NM_001002235.3"},"hgvs":"NM_001002235.3:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001002235.1"}}},"protein_product":{"refseq":"NP_001002235.1"},"refseq":"NM_001002235.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1700,"seq_id":"NM_001002236.3"},"hgvs":"NM_001002236.3:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001002236.1"}}},"protein_product":{"refseq":"NP_001002236.1"},"refseq":"NM_001002236.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1423,"seq_id":"NM_001127700.2"},"hgvs":"NM_001127700.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121172.1"}}},"protein_product":{"refseq":"NP_001121172.1"},"refseq":"NM_001127700.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1719,"seq_id":"NM_001127701.2"},"hgvs":"NM_001127701.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121173.1"}}},"protein_product":{"refseq":"NP_001121173.1"},"refseq":"NM_001127701.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1527,"seq_id":"NM_001127702.2"},"hgvs":"NM_001127702.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121174.1"}}},"protein_product":{"refseq":"NP_001121174.1"},"refseq":"NM_001127702.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1682,"seq_id":"NM_001127703.2"},"hgvs":"NM_001127703.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121175.1"}}},"protein_product":{"refseq":"NP_001121175.1"},"refseq":"NM_001127703.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1679,"seq_id":"NM_001127704.2"},"hgvs":"NM_001127704.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121176.1"}}},"protein_product":{"refseq":"NP_001121176.1"},"refseq":"NM_001127704.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1697,"seq_id":"NM_001127705.2"},"hgvs":"NM_001127705.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121177.1"}}},"protein_product":{"refseq":"NP_001121177.1"},"refseq":"NM_001127705.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1490,"seq_id":"NM_001127706.2"},"hgvs":"NM_001127706.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121178.1"}}},"protein_product":{"refseq":"NP_001121178.1"},"refseq":"NM_001127706.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1487,"seq_id":"NM_001127707.2"},"hgvs":"NM_001127707.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"NP_001121179.1"}}},"protein_product":{"refseq":"NP_001121179.1"},"refseq":"NM_001127707.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1625,"seq_id":"XM_017021370.2"},"hgvs":"XM_017021370.2:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"XP_016876859.1"}}},"protein_product":{"refseq":"XP_016876859.1"},"refseq":"XM_017021370.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1524,"seq_id":"XM_047431478.1"},"hgvs":"XM_047431478.1:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"XP_047287434.1"}}},"protein_product":{"refseq":"XP_047287434.1"},"refseq":"XM_047431478.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"AAT","inserted_sequence":"AAT","position":1628,"seq_id":"XM_047431479.1"},"hgvs":"XM_047431479.1:c.1206=","protein":{"variant":{"spdi":{"deleted_sequence":"N","inserted_sequence":"N","position":401,"seq_id":"XP_047287435.1"}}},"protein_product":{"refseq":"XP_047287435.1"},"refseq":"XM_047431479.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"-","symbol":"SERPINA1"},"hg19":{"end":94844837,"start":94844837},"ref":"A","rsid":"rs766128806","vartype":"snv"},"emv":{"_license":"http://bit.ly/2RieoY1","egl_classification":"VOUS","egl_classification_date":"12/21/2017","egl_protein":"p.Asn402= | p.N402=","egl_variant":"NM_000295.4:c.1206T>C","exon":"Ex5","gene":"SERPINA1","hgvs":["NM_000295.4:c.1206T>C","NM_001002235.2:c.1206T>C","NM_001002236.2:c.1206T>C","NM_001127700.1:c.1206T>C","NM_001127701.1:c.1206T>C","NM_001127702.1:c.1206T>C","NM_001127703.1:c.1206T>C","NM_001127704.1:c.1206T>C","NM_001127705.1:c.1206T>C","NM_001127706.1:c.1206T>C","NM_001127707.1:c.1206T>C"],"variant_id":67114},"exac":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":13,"ac_adj":13,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":2,"ac_fin":0,"ac_het":13,"ac_hom":0,"ac_male":11,"ac_nfe":6,"ac_oth":2,"ac_sas":5},"af":0.0001071,"alleles":"G","alt":"G","an":{"an":121412,"an_adj":121394,"an_afr":10400,"an_amr":11574,"an_eas":8654,"an_female":54110,"an_fin":6614,"an_male":67284,"an_nfe":66732,"an_oth":908,"an_sas":16512},"baseqranksum":2.43,"chrom":14,"clippingranksum":-0.101,"culprit":"InbreedingCoeff","fs":0.0,"het":{"het_afr":0,"het_amr":0,"het_eas":0,"het_fin":0,"het_nfe":6,"het_oth":2,"het_sas":5},"hom":{"hom_afr":0,"hom_amr":0,"hom_eas":0,"hom_fin":0,"hom_nfe":0,"hom_oth":0,"hom_sas":0},"inbreedingcoeff":-0.0001,"mq":{"mq":59.56,"mq0":0,"mqranksum":0.165},"ncc":0,"pos":94844837,"qd":13.27,"readposranksum":0.574,"ref":"A","type":"snp","vqslod":4.32},"exac_nontcga":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":12,"ac_adj":12,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":1,"ac_fin":0,"ac_het":12,"ac_hom":0,"ac_male":11,"ac_nfe":5,"ac_oth":2,"ac_sas":5},"af":0.000113,"alleles":"G","alt":"G","an":{"an":106210,"an_adj":106196,"an_afr":9060,"an_amr":11212,"an_eas":7866,"an_female":45864,"an_fin":6614,"an_male":60332,"an_nfe":54342,"an_oth":694,"an_sas":16408},"baseqranksum":2.43,"chrom":14,"clippingranksum":-0.101,"culprit":"InbreedingCoeff","fs":0.0,"het":{"het_afr":0,"het_amr":0,"het_eas":0,"het_fin":0,"het_nfe":5,"het_oth":2,"het_sas":5},"hom":{"hom_afr":0,"hom_amr":0,"hom_eas":0,"hom_fin":0,"hom_nfe":0,"hom_oth":0,"hom_sas":0},"inbreedingcoeff":-0.0001,"mq":{"mq":59.56,"mq0":0,"mqranksum":0.165},"ncc":0,"pos":94844837,"qd":13.27,"readposranksum":0.574,"ref":"A","type":"snp","vqslod":4.32},"geno2mp":{"_license":"http://bit.ly/2QyGCIN","hpo_count":3},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":26,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":0,"ac_female":6,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":20,"ac_nfe":14,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":5,"ac_nfe_male":9,"ac_nfe_nwe":8,"ac_nfe_onf":3,"ac_nfe_seu":2,"ac_nfe_swe":1,"ac_oth":2,"ac_oth_female":0,"ac_oth_male":2,"ac_sas":10,"ac_sas_female":1,"ac_sas_male":9},"af":{"af":0.000103388,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.0,"af_female":0.0000519184,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.000147152,"af_nfe":0.000123057,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.000099685,"af_nfe_male":0.000141487,"af_nfe_nwe":0.000189484,"af_nfe_onf":0.0000967804,"af_nfe_seu":0.000173853,"af_nfe_swe":0.0000382643,"af_oth":0.000325733,"af_oth_female":0.0,"af_oth_male":0.000622665,"af_sas":0.000326627,"af_sas_female":0.000132556,"af_sas_male":0.000390083},"alleles":"G","alt":"G","an":{"an":251480,"an_afr":16256,"an_afr_female":10070,"an_afr_male":6186,"an_amr":34580,"an_amr_female":20264,"an_amr_male":14316,"an_asj":10078,"an_asj_female":4900,"an_asj_male":5178,"an_eas":18394,"an_eas_female":9328,"an_eas_jpn":152,"an_eas_kor":3818,"an_eas_male":9066,"an_eas_oea":14424,"an_female":115566,"an_fin":21648,"an_fin_female":10374,"an_fin_male":11274,"an_male":135914,"an_nfe":113768,"an_nfe_bgr":2670,"an_nfe_est":242,"an_nfe_female":50158,"an_nfe_male":63610,"an_nfe_nwe":42220,"an_nfe_onf":30998,"an_nfe_seu":11504,"an_nfe_swe":26134,"an_oth":6140,"an_oth_female":2928,"an_oth_male":3212,"an_sas":30616,"an_sas_female":7544,"an_sas_male":23072},"baseqranksum":1.25,"chrom":"14","clippingranksum":0.09,"dp":11976266,"fs":1.157,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_jpn":0,"hom_eas_kor":0,"hom_eas_male":0,"hom_eas_oea":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_bgr":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_nfe_swe":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0,"hom_sas":0,"hom_sas_female":0,"hom_sas_male":0},"inbreedingcoeff":-0.0001,"mq":{"mq":59.34,"mqranksum":0.723},"pab_max":0.922685,"pos":94844837,"qd":11.22,"readposranksum":0.2,"ref":"A","rf":0.92239,"rsid":"rs766128806","sor":0.807,"type":"snp","vqslod":1.27,"vqsr_culprit":"MQ"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":2,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_male":0,"ac_female":1,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":1,"ac_nfe":2,"ac_nfe_est":0,"ac_nfe_female":1,"ac_nfe_male":1,"ac_nfe_nwe":2,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0},"af":{"af":0.0000638407,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_male":0.0,"af_female":0.0000719942,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.000057346,"af_nfe":0.000129988,"af_nfe_est":0.0,"af_nfe_female":0.000147362,"af_nfe_male":0.000116279,"af_nfe_nwe":0.000232992,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0},"alleles":"G","alt":"G","an":{"an":31328,"an_afr":8686,"an_afr_female":3666,"an_afr_male":5020,"an_amr":848,"an_amr_female":414,"an_amr_male":434,"an_asj":290,"an_asj_female":80,"an_asj_male":210,"an_eas":1558,"an_eas_female":538,"an_eas_male":1020,"an_female":13890,"an_fin":3474,"an_fin_female":1844,"an_fin_male":1630,"an_male":17438,"an_nfe":15386,"an_nfe_est":4566,"an_nfe_female":6786,"an_nfe_male":8600,"an_nfe_nwe":8584,"an_nfe_onf":2130,"an_nfe_seu":106,"an_oth":1086,"an_oth_female":562,"an_oth_male":524},"baseqranksum":-1.456,"chrom":"14","clippingranksum":0.125,"dp":662700,"fs":0.0,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_male":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0},"inbreedingcoeff":0.0003,"mq":{"mq":60.0,"mqranksum":0.139},"pab_max":1.0,"pos":94844837,"qd":14.81,"readposranksum":0.578,"ref":"A","rf":0.929415,"rsid":"rs766128806","sor":0.702,"type":"snp","vqslod":0.415,"vqsr_culprit":"FS"},"hg19":{"end":94844837,"start":94844837},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3220","position":"1467"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_000295.4","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3199","position":"1446"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001002235.2","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3513","position":"1760"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001002236.2","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3236","position":"1483"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127700.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3532","position":"1779"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127701.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3340","position":"1587"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127702.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"cdna":{"length":"3495","position":"1742"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127703.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3492","position":"1739"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127704.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3510","position":"1757"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127705.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3303","position":"1550"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127706.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"cdna":{"length":"3300","position":"1547"},"cds":{"length":"1257","position":"1206"},"effect":"synonymous_variant","feature_id":"NM_001127707.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1206T>C","hgvs_p":"p.Asn402Asn","protein":{"length":"418","position":"402"},"putative_impact":"LOW","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"94844837","ref":"A"},"wellderly":{"_license":"http://bit.ly/2VE6gj7","alleles":[{"allele":"G","freq":0.000831947},{"allele":"A","freq":0.999168053}],"alt":"G","chrom":"14","genotypes":[{"count":1200,"freq":0.9983361064891847,"genotype":"A/A"},{"count":2,"freq":0.0016638935108153079,"genotype":"A/G"}],"hg19":{"end":94844837,"start":94844837},"pos":"94844837","ref":"A","vartype":"snp"}}